Gain-of-function point mutations or microduplications leading to abnormal AKT3 and mTOR activation, most of which are limited to somatic brain populations, cause a spectrum of disorders characterized by cerebral hemisphere overgrowth such as hemimegalencephaly (HME), megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP) (Lee et al. 2012; Mirzaa et al. 2013; Poduri et al. 2012; Riviere et al. 2012). This evidence concerns the gene MTOR and megalencephaly.